Tau-predominant-associated pathology in a sporadic-late-onset Hallervorden-Spatz syndrome

Movement Disorders

Volumn 21, Issue 1, 2006, Pages 107-111

  Zarranz, Juan J ^a   Gómez Esteban, Juan C ^a   Atarés, Begoña ^b   Lezcano, Elena ^a   Forcadas, Maribel ^a  

^a UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

^b HOSPITAL TXAGORRITXU   (Spain)

Author keywords

synuclein; Hallervorden Spatz; TAV

Indexed keywords

ALPHA SYNUCLEIN; DOPAMINE RECEPTOR STIMULATING AGENT; PROTEIN ANTIBODY; TAU PROTEIN;

ADULT; AKINESIA; ARTICLE; AUTOPSY; BASAL GANGLION; CASE REPORT; CEREBELLUM; DEATH; DISEASE ASSOCIATION; DYSPHAGIA; DYSTONIA; GAIT DISORDER; GAZE PARALYSIS; HALLERVORDEN SPATZ DISEASE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; PRIORITY JOURNAL; RIGIDITY; TAUOPATHY;

ALPHA-SYNUCLEIN; AXONS; BASAL GANGLIA; BRAIN; BRAIN STEM; DIAGNOSIS, DIFFERENTIAL; HALLERVORDEN-SPATZ SYNDROME; HUMANS; INCLUSION BODIES; IRON; LEWY BODIES; MALE; MIDDLE AGED; MYELIN SHEATH; NEURODEGENERATIVE DISEASES; NEUROFIBRILLARY TANGLES; PROTEIN FOLDING; SPHEROIDS, CELLULAR; TAU PROTEINS; TAUOPATHIES; THALAMIC NUCLEI;

EID: 33244469030     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.20661     Document Type: Article

References (31)

1. Wigboldus J, Bruyn G. Hallervorden-Spatz disease. In: Vinken PJ, Bruyn GW, editors. Handbook of clinical neurology, vol. 6. Amsterdam: North Holland Publishing; 1968. p 664-681.
2. Grimes DA, Lang AE, Bergeron C. Late adult onset chorea with typical pathology of Hallervorden-Spatz syndrome. J Neurol Neurosurg Psychiatry 2000;69:392-395.
3. Vasconcelos OM, Harter DH, Duffy C, et al. Adult Hallervorden-Spatz syndrome simulating amyotrophic lateral sclerosis. Muscle Nerve 2003;28:118-122.
4. Molinuevo JL, Marti MJ, Blesa R, Tolosa E. Pure akinesia: an unusual phenotype of Hallervorden-Spatz syndrome. Mov Disord 2003;18:1351-1353.
5. Thomas M, Hayflick SJ, Jankovic J. Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration. Mov Disord 2004;19:36-42.
6. Jellinger K. Neuroaxonal dystrophy: its natural history and related disorders. In: Zimmerman H, editor. Progress in neuropathology, vol. 2. New York: Grune and Stratton; 1973. p 129-180.
7. Rozdilsky B, Bolton CF, Takeda M. Neuroaxonal dystrophy: a case of delayed onset and protracted course. Acta Neuropathol (Berl) 1971;17:331-340.
8. Park BE, Netsky MG, Betsill WL Jr. Pathogenesis of pigment and spheroid formation in Hallervorden-Spatz syndrome and related disorders. Neurology 1975;25:1172-1178.
9. Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 2003;348:33-40.
10. Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet 2001;28:345-349.
11. Curtis AR, Fey C, Morris CM, et al. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet 2001;28:350-354.
12. Gitlin JD. Aceruloplasminemia. Pediatr Res 1998;44:271-276.
13. Dooling EC, Schoene WC, Richardson EP Jr. Hallervorden-Spatz syndrome. Arch Neurol 1974;30:70-83.
14. Tu PH, Galvin JE, Baba M, et al. Glial cytoplasmic inclusions in white matter oligodendrocytes of multiple system atrophy brains contain insoluble alpha-synuclein. Ann Neurol 1998;44: 415-422.
15. Arawaka S, Saito Y, Murayama S, Mori H. Lewy body in neurodegeneration with brain iron accumulation type 1 is immunoreactive for alpha-synuclein. Neurology 1998;51:887-889.
16. Newell KL, Boyer P, Gomez-Tortosa E, et al. Alpha-synuclein immunoreactivity is present in axonal swellings in neuroaxonal dystrophy and acute traumatic brain injury. J Neuropathol Exp Neurol 1999;58:1263-1268.
17. Wakabayashi K, Yoshimoto M, Fukushima T, et al. Widespread occurrence of alpha-synuclein/NACP-immunoreactive neuronal inclusions in juvenile and adult-onset Hallervorden-Spatz disease with Lewy bodies. Neuropathol Appl Neurobiol 1999;25: 363-368.
18. Neumann M, Adler S, Schluter O, Kremmer E, Benecke R, Kretzschmar HA. Alpha-synuclein accumulation in a case of neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome) with widespread cortical and brainstem-type Lewy bodies. Acta Neuropathol (Berl) 2000; 100:568-574.
19. Wakabayashi K, Fukushima T, Koide R, et al. Juvenile-onset generalized neuroaxonal dystrophy (Hallervorden-Spatz disease) with diffuse neurofibrillary and lewy body pathology. Acta Neuropathol (Berl) 2000;99:331-336.
20. Saito Y, Kawai M, Inoue K, et al. Widespread expression of alpha-synuclein and tau immunoreactivity in Hallervorden-Spatz syndrome with protracted clinical course. J Neurol Sci 2000;177: 48-59.
21. Wisniewski K, Jervis GA, Moretz RC, Wisniewski HM. Alzheimer neurofibrillary tangles in diseases other than senile and presenile dementia. Ann Neurol 1979;5:288-294.
22. Hartmann HA, White SK, Levine RL. Neuroaxonal dystrophy with neuromelanin deposition, neurofibrillary tangles, and neuronal loss: light- and electron-microscopic changes in a 45-year-old woman with progressive psychomotor deterioration. Acta Neuropathol (Berl) 1983;61:169-172.
23. Eidelberg D, Sotrel A, Joachim C, et al. Adult onset Hallervorden-Spatz disease with neurofibrillary pathology: a discrete clinicopathological entity. Brain 1987;110(Pt. 4):993-1013.
24. Tuite PJ, Provias JP, Lang AE. Atypical dopa responsive parkinsonism in a patient with megalencephaly, midbrain Lewy body disease, and some pathological features of Hallervorden-Spatz disease. J Neurol Neurosurg Psychiatry 1996;61:523-527.
25. Yamamoto T, Kawamura J, Hashimoto S, et al. Pallido-nigro-luysian atrophy, progressive supranuclear palsy and adult onset Hallervorden-Spatz disease: a case of akinesia as a predominant feature of Parkinsonism. J Neurol Sci 1991;101:98-106.
26. Hayashi S, Akasaki Y, Morimura Y, Takauchi S, Sato M, Miyoshi K. An autopsy case of late infantile and juvenile neuroaxonal dystrophy with diffuse Lewy bodies and neurofibrillary tangles. Clin Neuropathol 1992;11:1-5.
27. Gaytan-Garcia S, Kaufmann JC, Young GB. Adult onset Hallervorden-Spatz syndrome or Seitelberger's disease with late onset: variants of the same entity? a clinico-pathological study. Clin Neuropathol 1990;9:136-142.
28. Galvin JE, Giasson B, Hurtig HI, Lee VM, Trojanowski JQ. Neurodegeneration with brain iron accumulation, type 1 is characterized by alpha-, beta-, and gamma-synuclein neuropathology. Am J Pathol 2000;157:361-368.
29. Litvan I, Hauw JJ, Bartko JJ, et al. Validity and reliability of the preliminary NINDS neuropathology criteria for progressive supranuclear palsy and related disorders. J Neuropathol Exp Neurol 1996;55:97-105.
30. Sadeh M, Sandbank U. Neuroaxonal dystrophy and hemosiderin in the central nervous system. Ann Neurol 1980;7:286-287.
31. Koeppen AH, Barron KD. Superficial siderosis of the central nervous system: a histological, histochemical and chemical study. J Neuropathol Exp Neurol 1971;30:448-469.